Full data view for gene ASTN2

Information The variants shown are described using the NM_014010.4 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
?/. - c.274_279dup r.(?) p.(Ala92_Gly93dup) Unknown - VUS g.120176941_120176946dup g.117414663_117414668dup ASTN2(NM_014010.4):c.279_280insGCTGGG (p.(Ala92_Gly93dup)) - ASTN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522C>T r.(=) p.(=) Unknown - benign g.120053713G>A - NM_014010:c.C522T (H174H) - ASTN2_000044 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0040 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.694C>T r.(?) p.(Arg232Cys) Unknown - VUS g.119976958G>A g.117214679G>A ASTN2(NM_014010.4):c.694C>T (p.(Arg232Cys)) - ASTN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.892G>C r.(?) p.(Asp298His) Both (homozygous) - likely pathogenic (recessive) g.119976760C>G g.117214481C>G - - ASTN2_000034 - PubMed: Anazi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID 15DG0307 PubMed: Anazi 2017 family M - - - - - - - 1 Johan den Dunnen
?/. - c.1015+33481T>A r.(=) p.(=) Unknown - VUS g.119943156A>T g.117180877A>T - - ASTN2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1015+33731del r.(=) p.(=) Unknown - VUS g.119942906del g.117180627del - - ASTN2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1015+33731del r.(=) p.(=) Unknown - VUS g.119942906del g.117180627del - - ASTN2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. _6_22_ c.(1202_1412)_(*626_?)del r.? p.? Both (homozygous) - pathogenic g.(119770397_119802166)_(119432957_119449208)del - - - TRIM32_000036 deletion includes 3'end ASTN2 PubMed: Nectoux 2015 - - Germline - - - - - DNA arrayCGH, PCRq - - LGMD 25351777-Fam2Pat2 PubMed: Nectoux 2015 2-generation family, 1 affected, unaffected parents M - France - - - - - 1 Aleksandra Nadaj Pakleza
?/. - c.1525C>T r.(?) p.(Pro509Ser) Unknown - VUS g.119738466G>A - ASTN2(NM_014010.4):c.1525C>T (p.(Pro509Ser)) - ASTN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _12i_22_ c.(1737-10587_2244-23622)_(*626_?)del r.? p.? Parent #2 - pathogenic (recessive) g.(119432957_119449208)_(119519424_119636599)del - hg19:119447866_119572263del - TRIM32_000019 deletion includes 5' end ASTN2 gene PubMed: Nectoux 2015 - - Germline/De novo (untested) - - - - - DNA arraySEQ - - LGMD 25351777-Pat1 PubMed: Nectoux 2015 3-generation family, 1 affected, unaffected parents M - France - - - - - 1 Juliette Nectoux
?/. - c.2653+26168C>T r.(=) p.(=) Unknown - VUS g.119461882G>A g.116699603G>A TRIM32(NM_012210.3):c.1861G>A (p.G621S) - TRIM32_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26242C>T r.(=) p.(=) Unknown - VUS g.119461808G>A g.116699529G>A TRIM32(NM_012210.4):c.1787G>A (p.R596H) - TRIM32_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26302C>T r.(=) p.(=) Unknown - VUS g.119461748G>A - TRIM32(NM_001099679.1):c.1727G>A (p.(Arg576His)) - ASTN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+26499T>C r.(=) p.(=) Unknown - benign g.119461551A>G g.116699272A>G ASTN2(NM_014010.5):c.2653+26499T>C, TRIM32(NM_012210.4):c.1530A>G (p.L510=) - TRIM32_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2653+26570C>T r.(=) p.(=) Unknown - likely pathogenic g.119461480G>A g.116699201G>A TRIM32(NM_012210.3):c.1459G>A (p.D487N) - TRIM32_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+26775C>T r.(=) p.(=) Unknown - benign g.119461275G>A g.116698996G>A ASTN2(NM_014010.5):c.2653+26775C>T, TRIM32(NM_001099679.1):c.1254G>A (p.V418=), TRIM32(NM_012210.4):c.1254G>A (p.V418=) - TRIM32_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+26775C>T r.(=) p.(=) Unknown - benign g.119461275G>A g.116698996G>A ASTN2(NM_014010.5):c.2653+26775C>T, TRIM32(NM_001099679.1):c.1254G>A (p.V418=), TRIM32(NM_012210.4):c.1254G>A (p.V418=) - TRIM32_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26807G>A r.(=) p.(=) Unknown - VUS g.119461243C>T g.116698964C>T TRIM32(NM_001379048.1):c.1222C>T (p.R408C), TRIM32(NM_012210.3):c.1222C>T (p.R408C), TRIM32(NM_012210.4):c.1222C>T (p.R408C) - TRIM32_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26807G>A r.(=) p.(=) Unknown - VUS g.119461243C>T g.116698964C>T TRIM32(NM_001379048.1):c.1222C>T (p.R408C), TRIM32(NM_012210.3):c.1222C>T (p.R408C), TRIM32(NM_012210.4):c.1222C>T (p.R408C) - TRIM32_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26831G>T r.(=) p.(=) Unknown - VUS g.119461219C>A - - - ASTN2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+26838G>C r.(=) p.(=) Unknown - benign g.119461212C>G g.116698933C>G ASTN2(NM_014010.5):c.2653+26838G>C, TRIM32(NM_012210.4):c.1191C>G (p.V397=) - TRIM32_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+26848C>T r.(=) p.(=) Parent #1 - VUS g.119461202G>A g.116698923G>A - - TRIM32_000009 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434447 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.2653+26874T>G r.(=) p.(=) Unknown - benign g.119461176A>C g.116698897A>C TRIM32(NM_012210.4):c.1155A>C (p.V385=) - ASTN2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2653+26922del r.(=) p.(=) Unknown - likely pathogenic g.119461129del - TRIM32(NM_001099679.1):c.1108del (p.(Met370Cysfs*10)) - ASTN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27134G>A r.(=) p.(=) Unknown - VUS g.119460916C>T - TRIM32(NM_012210.4):c.895C>T (p.(Arg299Trp)) - ASTN2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27190A>T r.(=) p.(=) Unknown - VUS g.119460860T>A - TRIM32(NM_012210.3):c.839T>A (p.L280H) - ASTN2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27218G>C r.(=) p.(=) Unknown - likely benign g.119460832C>G g.116698553C>G TRIM32(NM_012210.3):c.811C>G (p.R271G) - ASTN2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27259G>C r.(=) p.(=) Unknown - likely benign g.119460791C>G g.116698512C>G ASTN2(NM_014010.5):c.2653+27259G>C, TRIM32(NM_012210.4):c.770C>G (p.T257R) - TRIM32_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27286T>G r.(=) p.(=) Unknown - VUS g.119460764A>C - TRIM32(NM_012210.3):c.743A>C (p.(Gln248Pro)) - ASTN2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27341T>C r.(=) p.(=) Unknown - VUS g.119460709A>G - TRIM32(NM_012210.3):c.688A>G (p.I230V) - ASTN2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27422G>A r.(=) p.(=) Unknown - VUS g.119460628C>T - TRIM32(NM_001099679.1):c.607C>T (p.(Arg203Trp)) - ASTN2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27471C>G r.(=) p.(=) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27471C>G r.(=) p.(=) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27471C>G r.(=) p.(=) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27471C>G r.(=) p.(=) Unknown - likely benign g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27471C>G r.(=) p.(=) Unknown - VUS g.119460579G>C g.116698300G>C NM_001099679.1:c.558G>C - TRIM32_000030 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. - c.2653+27492_2653+27493insTTACCTT r.(=) p.(=) Unknown - pathogenic g.119460563_119460564insAAAGGTA - TRIM32(NM_012210.3):c.542_543insAAAGGTA (p.Y181*) - ASTN2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27508G>A r.(=) p.(=) Unknown - likely benign g.119460542C>T g.116698263C>T TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F) - TRIM32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27508G>A r.(=) p.(=) Unknown - VUS g.119460542C>T g.116698263C>T TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F) - TRIM32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27508G>A r.(=) p.(=) Unknown - VUS g.119460542C>T - TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F) - TRIM32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27528C>T r.(=) p.(=) Unknown - likely benign g.119460522G>A g.116698243G>A TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=) - TRIM32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27528C>T r.(=) p.(=) Unknown - likely benign g.119460522G>A - TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=) - TRIM32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27532C>T r.(=) p.(=) Unknown - VUS g.119460518G>A g.116698239G>A TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q) - TRIM32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27532C>T r.(=) p.(=) Unknown - VUS g.119460518G>A g.116698239G>A TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q) - TRIM32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27533G>A r.(=) p.(=) Unknown - VUS g.119460517C>T - - - TRIM32_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27549_2653+27550insT r.(=) p.(=) Unknown - VUS g.119460500_119460501insA g.116698221_116698222insA TRIM32(NM_012210.3):c.479_480insA (p.(Met160IlefsTer23)) - TRIM32_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+27550A>G r.(=) p.(=) Unknown - benign g.119460500T>C g.116698221T>C TRIM32(NM_012210.3):c.479T>C (p.M160T) - TRIM32_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27562A>G r.(=) p.(=) Unknown - VUS g.119460488T>C - TRIM32(NM_012210.3):c.467T>C (p.L156P) - TRIM32_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2653+27562A>G r.(=) p.(=) Unknown - likely pathogenic g.119460488T>C g.116698209T>C TRIM32/BBS11 c.467T>C, p.Leu156Pro - TRIM32_000021 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-60 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
-?/. - c.2653+27625G>A r.(=) p.(=) Unknown - likely benign g.119460425C>T g.116698146C>T TRIM32(NM_001099679.1):c.404C>T (p.(Thr135Ile)) - ASTN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27647G>A r.(=) p.(=) Unknown - VUS g.119460403C>T g.116698124C>T TRIM32(NM_001099679.1):c.382C>T (p.H128Y) - TRIM32_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27691C>T r.(=) p.(=) Unknown - likely benign g.119460359G>A - TRIM32(NM_001099679.1):c.338G>A (p.(Arg113Gln)) - ASTN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27715C>A r.(=) p.(=) Unknown - VUS g.119460335G>T g.116698056G>T NM_001099679.1:c.314G>T - ASTN2_000037 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case28865 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-?/. - c.2653+27750C>T r.(=) p.(=) Unknown - likely benign g.119460300G>A g.116698021G>A TRIM32(NM_012210.3):c.279G>A (p.E93=) - ASTN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27753G>A r.(=) p.(=) Unknown - VUS g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+27753G>A r.(=) p.(=) Unknown - likely benign g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+27753G>A r.(=) p.(=) Unknown - VUS g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2653+27828A>G r.(=) p.(=) Unknown - benign g.119460222T>C g.116697943T>C ASTN2(NM_014010.5):c.2653+27828A>G, TRIM32(NM_012210.4):c.201T>C (p.I67=) - ASTN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+28023A>C r.(=) p.(=) Unknown - likely benign g.119460027T>G - TRIM32(NM_001099679.1):c.6T>G (p.(Ala2=)) - ASTN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2653+28028T>C r.(=) p.(=) Unknown - VUS g.119460022A>G - TRIM32(NM_012210.4):c.1A>G (p.M1?) - ASTN2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2653+28400T>C r.(=) p.(=) Unknown - likely benign g.119459650A>G - TRIM32(NM_001379048.1):c.-142-2A>G - ASTN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2654-35537C>G r.(=) p.(=) Unknown - benign g.119449609G>C - - - ASTN2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2654-34958A>G r.(=) p.(=) Unknown - likely benign g.119449030T>C g.116686751T>C ASTN2(NM_198186.3):c.55A>G (p.(Ser19Gly)) - ASTN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2736G>A r.(?) p.(Met912Ile) Unknown - likely benign g.119413990C>T g.116651711C>T ASTN2(NM_001184734.1):c.45G>A (p.(Met15Ile)) - ASTN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3779A>G r.(?) p.(Tyr1260Cys) Unknown - VUS g.119188218T>C g.116425939T>C ASTN2(NM_001184734.1):c.1088A>G (p.(Tyr363Cys)) - ASTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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